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ITSN1 (intersectin 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6453
Gene nameGene Name - the full gene name approved by the HGNC.
Intersectin 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ITSN1
SynonymsGene synonyms aliases
ITSN, SH3D1A, SH3P17
ChromosomeChromosome number
21
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.11
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs755276554 G>A,T Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT038428 hsa-miR-296-3p CLASH 23622248
MIRT438158 hsa-miR-194-5p Luciferase reporter assay 24197061
MIRT438158 hsa-miR-194-5p Luciferase reporter assay 24197061
MIRT438158 hsa-miR-194-5p Luciferase reporter assay 24197061
MIRT438158 hsa-miR-194-5p Luciferase reporter assay 24197061
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity NAS 9799604
GO:0005509 Function Calcium ion binding NAS 9799604
GO:0005515 Function Protein binding IPI 10064583, 12006984, 12812986, 16696976, 16914641, 18654987, 20448150, 20946875, 21900206, 29887380, 31413325, 32203420
GO:0005635 Component Nuclear envelope IEA
GO:0005737 Component Cytoplasm IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q15811
Protein name Intersectin-1 (SH3 domain-containing protein 1A) (SH3P17)
Protein function Adapter protein that provides a link between the endocytic membrane traffic and the actin assembly machinery (PubMed:11584276, PubMed:29887380). Acts as a guanine nucleotide exchange factor (GEF) for CDC42, and thereby stimulates actin nucleatio
PDB 1KI1 , 2KGR , 2KHN , 3FIA , 3QBV , 4IIM , 5HZI , 5HZJ , 5HZK , 6GBU , 6H5T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12763 EF-hand_4
16 108
Cytoskeletal-regulatory complex EF hand
Family
PF12763 EF-hand_4
216 312
Cytoskeletal-regulatory complex EF hand
Family
PF14604 SH3_9
747 802
Variant SH3 domain
Domain
PF16617 INTAP
803 917
Disordered
PF00018 SH3_1
919 963
SH3 domain
Domain
PF07653 SH3_2
1007 1057
Variant SH3 domain
Domain
PF07653 SH3_2
1078 1136
Variant SH3 domain
Domain
PF00018 SH3_1
1161 1206
SH3 domain
Domain
PF00621 RhoGEF
1241 1421
RhoGEF domain
Domain
PF16652 PH_13
1440 1593
Pleckstrin homology domain
Domain
PF00168 C2
1596 1696
C2 domain
Domain
Sequence
MAQFPTPFGGSLDIWAITVEERAKHDQQFHSLKPISGFITGDQARNFFFQSGLPQPVLAQ
IWALADMNNDGRMDQVEFSIAMKLIKLKLQGYQLPSALPPVMKQQPVA
ISSAPAFGMGGI
ASMPPLTAVAPVPMGSIPVVGMSPTLVSSVPTAAVPPLANGAPPVIQPLPAFAHPAATLP
KSSSFSRSGPGSQLNTKLQKAQSFDVASVPPVAEWAVPQSSRLKYRQLFNSHDKTMSGHL
TGPQARTILMQSSLPQAQLASIWNLSDIDQDGKLTAEEFILAMHLIDVAMSGQPLPPVLP
PEYIPPSFRRVR
SGSGISVISSTSVDQRLPEEPVLEDEQQQLEKKLPVTFEDKKRENFER
GNLELEKRRQALLEQQRKEQERLAQLERAEQERKERERQEQERKRQLELEKQLEKQRELE
RQREEERRKEIERREAAKRELERQRQLEWERNRRQELLNQRNKEQEDIVVLKAKKKTLEF
ELEALNDKKHQLEGKLQDIRCRLTTQRQEIESTNKSRELRIAEITHLQQQLQESQQMLGR
LIPEKQILNDQLKQVQQNSLHRDSLVTLKRALEAKELARQHLRDQLDEVEKETRSKLQEI
DIFNNQLKELREIHNKQQLQKQKSMEAERLKQKEQERKIIELEKQKEEAQRRAQERDKQW
LEHVQQEDEHQRPRKLHEEEKLKREESVKKKDGEEKGKQEAQDKLGRLFHQHQEPAKPAV
QAPWSTAEKGPLTISAQENVKVVYYRALYPFESRSHDEITIQPGDIVMVKGEWVDESQTG
EPGWLGGELKGKTGWFPANYAE
KIPENEVPAPVKPVTDSTSAPAPKLALRETPAPLAVTS
SEPSTTPNNWADFSSTWPTSTNEKPETDNWDAWAAQPSLTVPSAGQLRQRSAFTPATATG
SSPSPVLGQGEKVEGLQ
AQALYPWRAKKDNHLNFNKNDVITVLEQQDMWWFGEVQGQKGW
FPK
SYVKLISGPIRKSTSMDSGSSESPASLKRVASPAAKPVVSGEEFIAMYTYESSEQGD
LTFQQGDVILVTKKDGDWWTGTVGDKAGVFPSNYVRL
KDSEGSGTAGKTGSLGKKPEIAQ
VIASYTATGPEQLTLAPGQLILIRKKNPGGWWEGELQARGKKRQIGWFPANYVKLL
SPGT
SKITPTEPPKSTALAAVCQVIGMYDYTAQNDDELAFNKGQIINVLNKEDPDWWKGEVNGQ
VGLFPS
NYVKLTTDMDPSQQWCSDLHLLDMLTPTERKRQGYIHELIVTEENYVNDLQLVT
EIFQKPLMESELLTEKEVAMIFVNWKELIMCNIKLLKALRVRKKMSGEKMPVKMIGDILS
AQLPHMQPYIRFCSRQLNGAALIQQKTDEAPDFKEFVKRLAMDPRCKGMPLSSFILKPMQ
RVTRYPLIIKNILENTPENHPDHSHLKHALEKAEELCSQVN
EGVREKENSDRLEWIQAHV
QCEGLSEQLVFNSVTNCLGPRKFLHSGKLYKAKSNKELYGFLFNDFLLLTQITKPLGSSG
TDKVFSPKSNLQYKMYKTPIFLNEVLVKLPTDPSGDEPIFHISHIDRVYTLRAESINERT
AWVQKIKAASELYIETEKKKREKAYLVRSQRAT
GIGRLMVNVVEGIELKPCRSHGKSNPY
CEVTMGSQCHITKTIQDTLNPKWNSNCQFFIRDLEQEVLCITVFERDQFSPDDFLGRTEI
RVADIKKDQGSKGPVT
KCLLLHEVPTGEIVVRLDLQLFDEP
Sequence length 1721
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    NRAGE signals death through JNK
Rho GTPase cycle
EPHB-mediated forward signaling
G alpha (12/13) signalling events
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 29610475
Unknown
Disease name Disease term dbSNP ID References
Prostatic neoplasms Prostatic Neoplasms 29610475

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